Varaico: Literature-Extracted Genetic Variants

TUT1

54 papers

RefSeq Summary

This gene encodes a nucleotidyl transferase that functions as both a terminal uridylyltransferase and a nuclear poly(A) polymerase. The encoded enzyme specifically adds and removes nucleotides from th...

Pfam Domains

zf-metaa 16–40UCSCZinc-finger of C2H2 type

zf-metaa 54–78UCSCZinc-finger of C2H2 type

RRM_1aa 58–122UCSCRNA recognition motif

RRM_1aa 96–160UCSCRNA recognition motif

MTPAP-like_centralaa 197–293UCSCPoly(A) RNA polymerase, mitochondrial-like, central palm domain

MTPAP-like_centralaa 349–439UCSCPoly(A) RNA polymerase, mitochondrial-like, central palm domain

Gene Aliases

HGNC Name

terminal uridylyl transferase 1, U6 snRNA-specific

HGNC Previous Symbol

RBM21

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_022830.3

p.L619L

c.1857C>T

Surrounding Variants

1 paper

NM_022830.3

p.Q596H

c.1788G>C

1 paper

NM_022830.3

p.S653fs

c.1957_1958fs

1 paper

NM_022830.3

p.R581R

c.1743C>G

1 paper

NM_022830.3

p.A560T

c.1678G>A

1 paper

NM_022830.3

p.R558R

c.1674G>C

1 paper

NM_022830.3

p.R558W

c.1672C>T

1 paper

NM_022830.3

p.R558G

c.1672C>G

1 paper

NM_022830.3

p.D687E

c.2061C>G

1 paper

NM_022830.3

p.D687E

c.2061C>A

1 paper

NM_022830.3

p.R535C

c.1603C>T

1 paper

NM_022830.3

p.A519G

c.1556C>G

1 paper

NM_022830.3

p.L511L

c.1531C>T